Proteoglycans are Differentially Altered in Muscular Dystrophies

Por Zanotti, Simona, Mora, Marina
Publicado no ScientificWorldJournal (2006)

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

Por Tavian, Daniela, Maggi, Lorenzo, Mora, Marina, Morandi, Lucia, Bragato, Cinzia, Missaglia, Sara
Publicado no Genes Dis (2019)

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies

Por Ruggieri, Alessandra, Saredi, Simona, Zanotti, Simona, Pasanisi, Maria Barbara, Maggi, Lorenzo, Mora, Marina
Publicado no Front Mol Biosci (2016)

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies

Por Cappelletti, Cristina, Salerno, Franco, Canioni, Eleonora, Mora, Marina, Mantegazza, Renato, Bernasconi, Pia, Maggi, Lorenzo
Publicado no Nucleus (2018)

Corneal Fleck dystrophy in a Spanish family

Por Rocha-de-Lossada, Carlos, Alba-Linero, Carmen, Hernando Ayala, Carlos, Rodriguez-Calvo-de-Mora, Marina
Publicado no Indian J Ophthalmol (2020)

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

Por Bragato, Cinzia, Gaudenzi, Germano, Blasevich, Flavia, Pavesi, Giulio, Maggi, Lorenzo, Giunta, Michele, Cotelli, Franco, Mora, Marina
Publicado no Sci Rep (2016)

Unusual complications and corneal clearance after Descemet Membrane Endothelial Transfer in Pseudophakic Bullous Keratopathy

Por Rachwani, Anil Rahul, Rocha-de-Lossada, Carlos, Rodríguez, Calvo de Mora Marina, Fernández, Baca Vaca Gustavo
Publicado no Rom J Ophthalmol (2019)

Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK

Por Saredi, Simona, Cauley, Edmund S., Ruggieri, Alessandra, Spivey, Tyler M., Ardissone, Anna, Mora, Marina, Moroni, Isabella, Manzini, M. Chiara
Publicado no Muscle Nerve (2020)

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

Por Viscomi, Carlo, Spinazzola, Antonella, Maggioni, Marco, Fernandez-Vizarra, Erika, Massa, Valeria, Pagano, Claudio, Vettor, Roberto, Mora, Marina, Zeviani, Massimo
Publicado em 2009

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

Por Ardissone, Anna, Bragato, Cinzia, Caffi, Lorella, Blasevich, Flavia, Maestrini, Sabrina, Bianchi, Maria Luisa, Morandi, Lucia, Moroni, Isabella, Mora, Marina
Publicado em 2013

Familial adult-onset Pompe disease associated with unusual clinical and histological features

Por MAGGI, LORENZO, SALERNO, FRANCO, BRAGATO, CINZIA, SAREDI, SIMONA, BLASEVICH, FLAVIA, MACCAGNANO, ELIO, PASANISI, BARBARA, DANESINO, CESARE, MORA, MARINA, MORANDI, LUCIA
Publicado em 2013

Laser light retinopathy

Por Alba-Linero, Carmen, Rocha de Lossada, Carlos, Rodríguez Calvo de Mora, Marina, Nieves de las Rivas, Ramirez, Hernando, Ayala Carlos
Publicado no Rom J Ophthalmol (2019)

Relapsed ocular squamous surface neoplasia treated with topical interferon alfa-2b

Por Rocha-de-Lossada, Carlos, Alba-Linero, Carmen, Borroni, Davide, Rachwani-Anil, Rahul, Zamorano-Martín, Francisco, Rodríguez-Calvo-de-Mora, Marina
Publicado no Rom J Ophthalmol (2020)

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

Por Ghezzi, Daniele, Sevrioukova, Irina, Invernizzi, Federica, Lamperti, Costanza, Mora, Marina, D'Adamo, Pio, Novara, Francesca, Zuffardi, Orsetta, Uziel, Graziella, Zeviani, Massimo
Publicado em 2010

Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

Por Pasanisi, Maria Barbara, Missaglia, Sara, Cassandrini, Denise, Salerno, Franco, Farina, Stefania, Andreini, Daniele, Agostoni, Piergiuseppe, Morandi, Lucia, Mora, Marina, Tavian, Daniela
Publicado no Int J Cardiol (2016)

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

Por Gibertini, Sara, Ruggieri, Alessandra, Saredi, Simona, Salerno, Franco, Blasevich, Flavia, Napoli, Laura, Moggio, Maurizio, Nigro, Vincenzo, Morandi, Lucia, Maggi, Lorenzo, Mora, Marina
Publicado no Acta Neuropathol Commun (2018)

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

Por Missaglia, Sara, Maggi, Lorenzo, Mora, Marina, Gibertini, Sara, Blasevich, Flavia, Agostoni, Piergiuseppe, Moro, Laura, Cassandrini, Denise, Santorelli, Filippo Maria, Gerevini, Simonetta, Tavian, Daniela
Publicado no Neuromuscul Disord (2017)

Development and Validation of the Overall Foot Health Questionnaire for Patients with Rheumatoid Arthritis: A Cross-Sectional Descriptive Analysis

Por Reina-Bueno, María, González-López, José Rafael, López-López, Daniel, Calvo-Lobo, César, Ballesteros-Mora, Marina, Rodríguez-Moreno, Inmaculada, Munuera-Martínez, Pedro V.
Publicado no Medicina (Kaunas) (2019)

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy p...

Por Capitanio, Daniele, Moriggi, Manuela, Torretta, Enrica, Barbacini, Pietro, De Palma, Sara, Viganò, Agnese, Lochmüller, Hanns, Muntoni, Francesco, Ferlini, Alessandra, Mora, Marina, Gelfi, Cecilia
Publicado no J Cachexia Sarcopenia Muscle (2020)

Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic dif...

Por Bodega, Beatrice, Ramirez, Gabriella Di Capua, Grasser, Florian, Cheli, Stefania, Brunelli, Silvia, Mora, Marina, Meneveri, Raffaella, Marozzi, Anna, Mueller, Stefan, Battaglioli, Elena, Ginelli, Enrico
Publicado em 2009